chr17-29566882-A-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_198147.3(ABHD15):c.85T>A(p.Trp29Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000668 in 1,497,078 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198147.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABHD15 | NM_198147.3 | c.85T>A | p.Trp29Arg | missense_variant | 1/2 | ENST00000307201.5 | |
TP53I13 | XM_047437003.1 | c.-275+294A>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABHD15 | ENST00000307201.5 | c.85T>A | p.Trp29Arg | missense_variant | 1/2 | 1 | NM_198147.3 | P1 | |
ABHD15-AS1 | ENST00000581474.1 | n.153+6183A>T | intron_variant, non_coding_transcript_variant | 5 | |||||
TP53I13 | ENST00000578073.1 | n.177+654A>T | intron_variant, non_coding_transcript_variant | 4 | |||||
TP53I13 | ENST00000584522.1 | n.288+294A>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151564Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000646 AC: 6AN: 92810Hom.: 0 AF XY: 0.0000191 AC XY: 1AN XY: 52460
GnomAD4 exome AF: 0.00000669 AC: 9AN: 1345514Hom.: 0 Cov.: 32 AF XY: 0.00000301 AC XY: 2AN XY: 663650
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151564Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74030
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at